Lutz Philipp, Maring Daniel, Tschampa Henriette J, Sauerbruch Tilman
Medizinische Klinik und Poliklinik I - Allgemeine Innere Medizin -, Universität Bonn, Bonn, Germany.
Med Klin (Munich). 2010 Apr;105(4):267-72. doi: 10.1007/s00063-010-1047-1.
A 25-year-old hypertensive patient presented to the Emergency Department with constipation and diffuse pain which had been increasing for 10 days. She had consulted several doctors before, but neither various analgesics nor metoclopramide had been beneficial. Blood analysis showed hyponatremia. A megacolon and polyneuropathy were found. Shortly after admission, she developed generalized seizures while hyponatremia increased compatible with SIADH (syndrome of inadequate ADH secretion). Urine examination revealed a markedly elevated excretion of porphyrins. Since porphobilinogen deaminase activity was clearly decreased, diagnosis of acute intermittent porphyria could be confirmed.
This case shows how definite diagnosis of this illness is often delayed because of its rarity and the variety of its possible symptoms and signs. This delay leads to a high risk of aggravating the disease by prescribing porphyrinogenic drugs.
一名25岁的高血压患者因便秘和弥漫性疼痛前往急诊科就诊，这些症状已持续加重10天。她之前咨询过几位医生，但各种止痛药和胃复安均未见效。血液分析显示低钠血症。发现有巨结肠和多发性神经病。入院后不久，她在低钠血症加重时出现全身性癫痫发作，符合抗利尿激素分泌不足综合征（SIADH）。尿液检查显示卟啉排泄明显升高。由于胆色素原脱氨酶活性明显降低，可确诊为急性间歇性卟啉病。
该病例表明，由于这种疾病罕见且可能出现的症状和体征多样，其明确诊断往往会延迟。这种延迟会因使用可诱发卟啉生成的药物而导致疾病加重的高风险。
